Incidental Mutation 'R2088:Uspl1'
ID |
231581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uspl1
|
Ensembl Gene |
ENSMUSG00000041264 |
Gene Name |
ubiquitin specific peptidase like 1 |
Synonyms |
E430026A01Rik |
MMRRC Submission |
040093-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R2088 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
149121338-149152246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 149146560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 437
(I437K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113247
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050472]
[ENSMUST00000100410]
[ENSMUST00000117878]
[ENSMUST00000119685]
[ENSMUST00000121416]
[ENSMUST00000122160]
[ENSMUST00000126168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050472
AA Change: I437K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050172 Gene: ENSMUSG00000041264 AA Change: I437K
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
213 |
486 |
7e-139 |
PFAM |
Pfam:DUF4650
|
557 |
1087 |
1.9e-213 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100410
AA Change: I437K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097978 Gene: ENSMUSG00000041264 AA Change: I437K
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
213 |
486 |
1.4e-139 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117878
AA Change: I238K
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113176 Gene: ENSMUSG00000041264 AA Change: I238K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C98
|
14 |
287 |
5.6e-140 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119685
AA Change: I423K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114104 Gene: ENSMUSG00000041264 AA Change: I423K
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
178 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
199 |
472 |
6.9e-139 |
PFAM |
Pfam:DUF4650
|
543 |
1073 |
1.8e-213 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121416
AA Change: I238K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113894 Gene: ENSMUSG00000041264 AA Change: I238K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C98
|
14 |
287 |
8.5e-139 |
PFAM |
Pfam:DUF4650
|
358 |
888 |
1.5e-213 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122160
AA Change: I437K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113247 Gene: ENSMUSG00000041264 AA Change: I437K
Domain | Start | End | E-Value | Type |
low complexity region
|
174 |
192 |
N/A |
INTRINSIC |
Pfam:Peptidase_C98
|
214 |
486 |
2.5e-125 |
PFAM |
Pfam:DUF4650
|
558 |
1087 |
1e-205 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150921
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
C |
9: 49,333,265 (GRCm39) |
|
probably benign |
Het |
Ano5 |
T |
A |
7: 51,237,454 (GRCm39) |
N759K |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 15,033,898 (GRCm39) |
T1072A |
possibly damaging |
Het |
BC107364 |
T |
C |
3: 96,341,745 (GRCm39) |
T93A |
unknown |
Het |
Canx |
C |
T |
11: 50,201,217 (GRCm39) |
E97K |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,631,126 (GRCm39) |
L62P |
probably damaging |
Het |
Cbfa2t3 |
C |
T |
8: 123,364,725 (GRCm39) |
|
probably benign |
Het |
Cmklr2 |
A |
T |
1: 63,222,811 (GRCm39) |
|
probably null |
Het |
Cmya5 |
A |
T |
13: 93,229,320 (GRCm39) |
S1923T |
probably damaging |
Het |
Cntnap1 |
T |
A |
11: 101,073,373 (GRCm39) |
I618N |
probably damaging |
Het |
Cox17 |
C |
G |
16: 38,167,542 (GRCm39) |
P27R |
probably damaging |
Het |
Ctnna3 |
A |
G |
10: 64,708,986 (GRCm39) |
E675G |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,837,575 (GRCm39) |
L990P |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Eif2d |
T |
C |
1: 131,092,464 (GRCm39) |
V374A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,382,033 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
A |
5: 73,222,804 (GRCm39) |
I1926F |
probably benign |
Het |
Galnt4 |
A |
G |
10: 98,945,046 (GRCm39) |
D257G |
probably damaging |
Het |
Gatm |
A |
G |
2: 122,428,629 (GRCm39) |
V344A |
probably benign |
Het |
Gli1 |
T |
G |
10: 127,167,369 (GRCm39) |
Y628S |
probably damaging |
Het |
Gsdmc3 |
A |
C |
15: 63,732,063 (GRCm39) |
|
probably null |
Het |
Hap1 |
T |
C |
11: 100,246,828 (GRCm39) |
T26A |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,876,895 (GRCm39) |
G1200S |
probably benign |
Het |
Insyn1 |
T |
C |
9: 58,406,288 (GRCm39) |
F66S |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 96,028,171 (GRCm39) |
|
probably null |
Het |
Itga3 |
T |
A |
11: 94,943,320 (GRCm39) |
I895F |
probably benign |
Het |
Klhl33 |
A |
T |
14: 51,130,230 (GRCm39) |
C421* |
probably null |
Het |
Klra2 |
T |
C |
6: 131,219,789 (GRCm39) |
T131A |
probably damaging |
Het |
Krt14 |
T |
C |
11: 100,094,949 (GRCm39) |
E426G |
possibly damaging |
Het |
Limd2 |
A |
G |
11: 106,049,568 (GRCm39) |
F107L |
probably damaging |
Het |
Lipo4 |
A |
T |
19: 33,477,469 (GRCm39) |
N318K |
possibly damaging |
Het |
Mab21l2 |
T |
G |
3: 86,454,316 (GRCm39) |
D228A |
probably damaging |
Het |
Moxd2 |
G |
A |
6: 40,861,901 (GRCm39) |
H224Y |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,162,624 (GRCm39) |
Y521C |
possibly damaging |
Het |
Msto1 |
C |
T |
3: 88,818,297 (GRCm39) |
A317T |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,501,793 (GRCm39) |
S559P |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,576,783 (GRCm39) |
H2094Q |
unknown |
Het |
Ndufa11 |
C |
A |
17: 57,024,922 (GRCm39) |
T28K |
probably damaging |
Het |
Or2b4 |
A |
G |
17: 38,116,686 (GRCm39) |
T217A |
probably benign |
Het |
Or4f4b |
G |
T |
2: 111,314,623 (GRCm39) |
A283S |
probably damaging |
Het |
Orai2 |
C |
A |
5: 136,179,610 (GRCm39) |
R155L |
probably damaging |
Het |
Pde4c |
A |
G |
8: 71,202,005 (GRCm39) |
D582G |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,661,749 (GRCm39) |
E609G |
probably null |
Het |
Prune2 |
A |
G |
19: 17,097,109 (GRCm39) |
D871G |
possibly damaging |
Het |
Rbpms2 |
T |
A |
9: 65,538,121 (GRCm39) |
L4Q |
probably damaging |
Het |
Rhbg |
T |
C |
3: 88,154,765 (GRCm39) |
Y213C |
probably damaging |
Het |
Rplp0 |
T |
A |
5: 115,700,562 (GRCm39) |
N243K |
possibly damaging |
Het |
Rtp4 |
A |
T |
16: 23,431,963 (GRCm39) |
H165L |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,677,115 (GRCm39) |
M3245I |
probably benign |
Het |
Sh2b2 |
T |
A |
5: 136,260,968 (GRCm39) |
M83L |
possibly damaging |
Het |
Simc1 |
T |
C |
13: 54,689,347 (GRCm39) |
I284T |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,359,471 (GRCm39) |
S368P |
possibly damaging |
Het |
St6galnac1 |
A |
G |
11: 116,659,933 (GRCm39) |
S127P |
probably benign |
Het |
Tatdn3 |
A |
G |
1: 190,785,073 (GRCm39) |
I192T |
possibly damaging |
Het |
Tmem25 |
C |
A |
9: 44,707,383 (GRCm39) |
V239F |
possibly damaging |
Het |
Tprkb |
A |
C |
6: 85,909,922 (GRCm39) |
|
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,032,168 (GRCm39) |
V1040A |
probably benign |
Het |
Txnrd1 |
G |
A |
10: 82,719,744 (GRCm39) |
|
probably benign |
Het |
Uhrf1 |
A |
T |
17: 56,625,089 (GRCm39) |
K544M |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,629,386 (GRCm39) |
H1294Q |
possibly damaging |
Het |
Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,312,795 (GRCm39) |
I622F |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,730 (GRCm39) |
F398S |
probably damaging |
Het |
|
Other mutations in Uspl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00478:Uspl1
|
APN |
5 |
149,152,024 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00571:Uspl1
|
APN |
5 |
149,125,170 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01134:Uspl1
|
APN |
5 |
149,141,103 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02222:Uspl1
|
APN |
5 |
149,130,854 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02383:Uspl1
|
APN |
5 |
149,150,212 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02538:Uspl1
|
APN |
5 |
149,125,269 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Uspl1
|
APN |
5 |
149,141,114 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02585:Uspl1
|
APN |
5 |
149,150,872 (GRCm39) |
nonsense |
probably null |
|
IGL02971:Uspl1
|
APN |
5 |
149,125,156 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0020:Uspl1
|
UTSW |
5 |
149,146,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Uspl1
|
UTSW |
5 |
149,146,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Uspl1
|
UTSW |
5 |
149,125,159 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0433:Uspl1
|
UTSW |
5 |
149,151,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Uspl1
|
UTSW |
5 |
149,124,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Uspl1
|
UTSW |
5 |
149,151,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1195:Uspl1
|
UTSW |
5 |
149,131,131 (GRCm39) |
missense |
probably benign |
0.24 |
R1465:Uspl1
|
UTSW |
5 |
149,150,842 (GRCm39) |
missense |
probably benign |
0.12 |
R1465:Uspl1
|
UTSW |
5 |
149,150,842 (GRCm39) |
missense |
probably benign |
0.12 |
R1623:Uspl1
|
UTSW |
5 |
149,152,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Uspl1
|
UTSW |
5 |
149,138,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Uspl1
|
UTSW |
5 |
149,150,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1823:Uspl1
|
UTSW |
5 |
149,151,224 (GRCm39) |
missense |
probably benign |
0.25 |
R2099:Uspl1
|
UTSW |
5 |
149,151,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Uspl1
|
UTSW |
5 |
149,124,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R2944:Uspl1
|
UTSW |
5 |
149,138,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3437:Uspl1
|
UTSW |
5 |
149,151,507 (GRCm39) |
utr 3 prime |
probably benign |
|
R4132:Uspl1
|
UTSW |
5 |
149,141,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R4458:Uspl1
|
UTSW |
5 |
149,150,962 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4537:Uspl1
|
UTSW |
5 |
149,124,588 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4623:Uspl1
|
UTSW |
5 |
149,151,405 (GRCm39) |
missense |
probably damaging |
0.99 |
R4633:Uspl1
|
UTSW |
5 |
149,151,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Uspl1
|
UTSW |
5 |
149,131,149 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4743:Uspl1
|
UTSW |
5 |
149,146,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R5200:Uspl1
|
UTSW |
5 |
149,150,923 (GRCm39) |
missense |
probably benign |
0.02 |
R5222:Uspl1
|
UTSW |
5 |
149,150,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5337:Uspl1
|
UTSW |
5 |
149,151,556 (GRCm39) |
missense |
probably damaging |
0.99 |
R5496:Uspl1
|
UTSW |
5 |
149,146,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5654:Uspl1
|
UTSW |
5 |
149,146,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5845:Uspl1
|
UTSW |
5 |
149,130,770 (GRCm39) |
missense |
probably benign |
0.01 |
R6266:Uspl1
|
UTSW |
5 |
149,141,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Uspl1
|
UTSW |
5 |
149,151,097 (GRCm39) |
missense |
probably benign |
0.40 |
R6338:Uspl1
|
UTSW |
5 |
149,151,844 (GRCm39) |
missense |
probably benign |
0.03 |
R6774:Uspl1
|
UTSW |
5 |
149,150,904 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Uspl1
|
UTSW |
5 |
149,124,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Uspl1
|
UTSW |
5 |
149,130,745 (GRCm39) |
missense |
probably benign |
0.00 |
R7152:Uspl1
|
UTSW |
5 |
149,124,588 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7446:Uspl1
|
UTSW |
5 |
149,141,082 (GRCm39) |
nonsense |
probably null |
|
R7661:Uspl1
|
UTSW |
5 |
149,151,827 (GRCm39) |
missense |
probably benign |
0.15 |
R8095:Uspl1
|
UTSW |
5 |
149,150,992 (GRCm39) |
nonsense |
probably null |
|
R8126:Uspl1
|
UTSW |
5 |
149,151,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Uspl1
|
UTSW |
5 |
149,135,491 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8479:Uspl1
|
UTSW |
5 |
149,152,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R8926:Uspl1
|
UTSW |
5 |
149,138,701 (GRCm39) |
critical splice donor site |
probably null |
|
R9140:Uspl1
|
UTSW |
5 |
149,150,290 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9178:Uspl1
|
UTSW |
5 |
149,141,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R9196:Uspl1
|
UTSW |
5 |
149,151,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9359:Uspl1
|
UTSW |
5 |
149,146,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9384:Uspl1
|
UTSW |
5 |
149,151,349 (GRCm39) |
missense |
probably benign |
0.02 |
R9608:Uspl1
|
UTSW |
5 |
149,151,870 (GRCm39) |
missense |
probably benign |
0.17 |
X0019:Uspl1
|
UTSW |
5 |
149,151,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGCTTCAAAGGCTTTAGTG -3'
(R):5'- TGGGCGCAGGAATTAAAGTC -3'
Sequencing Primer
(F):5'- CAAAGGCTTTAGTGTCACATGCTC -3'
(R):5'- TGGGCGCAGGAATTAAAGTCAAAAG -3'
|
Posted On |
2014-09-18 |